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Doctors explore causes of breast cancer

Erica Hitch-Graham, a registered nurse from Freeport, is

Erica Hitch-Graham, a registered nurse from Freeport, is a breast cancer survivor who was diagnosed with triple negative breast cancer at 42. She has been disease-free for a decade. Credit: Danielle Finkelstein

In Lynbrook, Anita Marco wonders whether Long Island drinking water has played a role in the region’s incidence of breast cancer; she wonders also about her own exposures as the third person in her family to develop the disease.

Erica Hitch-Graham of Freeport has questions, too, having faced an aggressive form of the cancer a decade ago at age 42. Her mother died of the disease at 50. And at 24, Taylor Basile of Bellmore knows that she will avoid breast cancer altogether, having had both breasts surgically removed at 22. She said the procedure was a necessity: The cancer hadn’t skipped a woman in five generations on her mother’s side.

For decades, breast cancer has loomed large on the region’s health care landscape: Nassau ranks seventh in incidence statewide; Suffolk, 13th, according to the New York State Cancer Registry. Breast cancer not only is a formidable medical condition on Long Island, it is the most frequently diagnosed cancer in New York, eclipsing lung cancer in the number of annual cases. For some families, the cancer emerges in multiple generations, eluding medical explanation. For still others, the disease occurs reliably across centuries, indelibly inscribed in each generation’s DNA.

Marco, 52, a lifelong resident of the Island, is the third generation in her family to be diagnosed with breast cancer. A distant cousin, roughly her age, developed it about two years before Marco’s diagnosis in 2016. But with the disease having occurred in even closer relatives, Marco’s doctors recommended genetic screening.

“My mother and grandmother had breast cancer,” said Marco, who owns Print Café, a Lynbrook enterprise that specializes in printing promotional products. She is uncertain why she developed the disease. The cancer was diagnosed in her mother and grandmother at much older ages, she said.

Screenings for mutations in two key breast cancer-related genes, BRCA1 and BRCA2, turned up negative. These two snippets of DNA are what medical scientists refer to as “caretaker” genes that bear recipes for proteins that repair defects in DNA when these genes are healthy. When mutated, BRCA1 and 2 substantially raise the lifetime risks for breast and ovarian cancers.

Together, BRCA1 and 2 mutations account for about 20 percent to 25 percent of hereditary breast cancers and up to 10 percent of all breast cancer.

Marco was treated for a particularly aggressive form of stage 2 cancer, which required the surgical removal of her breast in a procedure called a mastectomy. The disease was characterized by the presence of a flawed HER2 gene.

A mutated HER2, which stands for human epidermal growth factor receptor 2, leads to an aggressive malignancy that affects about a quarter of all people who develop breast cancer. Unlike BRCA1 or 2, which are transmitted from parents to offspring, a HER2 mutation is not passed from one generation to the next.

A mutation in the HER2 gene occurs after birth — usually decades afterward. Having a close relative with HER2 breast cancer does not escalate the chances of future generations developing the disease, research has shown.

Marco’s monthslong ordeal of being treated for cancer took a toll.

“I lost all of my hair, I lost my eyebrows,” Marco, the mother of two teenagers said, referring to the consequences of powerful medications. The drugs, she recalled, also caused her fingernails to detach.

Her husband, Tony, had to run the business without her on days when cancer treatment overcame her strength.

Marco, president of the Long Island Center for Business & Professional Women, a Melville-based networking organization, said she hopes that making her story public will help other women remain vigilant about breast cancer screening. She added that she also wants to learn more about why breast cancer occurs in someone such as herself who had been healthy all her life.

In Lake Success, Dr. Francis Arena, medical director of NYU Langone Arena Oncology, said he and his colleagues explore every avenue to learn why patients’ healthy cells misbehave and transform into cancerous ones. Sometimes, despite a broad panel of genetic tests, answers remain elusive.

“I have a favorite phrase: Look at the company that a breast cancer keeps,” Arena said. “That means I want to ask if there is a family history of other cancers, of ovarian cancer. Is there a sibling or father with prostate cancer? Is there an increased risk of pancreatic cancer in that family?

“This kind of context is what’s coming of age. We’re not just seeing a few pages but a book with lots of chapters when trying to understand a patient’s risks,” Arena said.

His associate, Dr. Dwight DeRisi, a surgical oncologist in Great Neck, who estimates that he sees at least 10 new breast cancer patients a week, said doctors know far more about breast cancer inheritance and the genetic miscues that can lead to the disease than were known only a few years ago.

More discoveries, nevertheless, await, he said.

“We haven’t even scratched the surface of what genetic predisposition is all about, even though I would also say that we have a much better understanding than we did in the past. But boy, are breast cancer genetics complex,” said DeRisi, who is affiliated with the Northwell Health system.

He underscored that genes often are influenced by the environment in which people live.

“People are worried. They worry about their well water system and that they are drinking it, bathing in it and cooking with it,” DeRisi said.

Patients want answers that doctors sometimes don’t have, DeRisi said.

Hitch-Graham has no idea which gene mutation was involved in her form of breast cancer known as triple negative diagnosed a decade ago.

She said her doctors strongly suspected an inherited malignancy because her mother developed the cancer while young as well. Hitch-Graham said her mother died of breast cancer in 1979.

“I was genetically tested in 2008 when I was 42. But it came back negative,” said Hitch-Graham, a registered nurse at Elmhurst Hospital in Queens.

Her physician recently recommended new testing at NYU Winthrop Hospital because more has been learned about breast cancer genetics in the decade since Hitch-Graham’s diagnosis.

She calls herself fortunate because her cancer was detected very early at stage 1. She has been cancer-free for 10 years.

Triple negative means three key markers on breast cancer cells are missing. These markers are the targets of highly successful cancer medications. Without those targets on triple negative cancer cells, doctors have to work harder to control this type of disease.

Triple negative malignancies account for 10 percent to 20 percent of all cases of breast cancer in the United States, according to the National Breast Cancer Foundation, and they can be tough to treat.

Anyone can be affected by this form of breast cancer, but it is most prevalent in women younger than 50, African-Americans, Hispanics and those with a BRCA1 gene mutation, according to the Triple Negative Breast Cancer Foundation.

“With patients who are triple negative we are obligated to do genetic testing,” Arena said. “We are raising our awareness and raising our antennas to better understand breast cancer.

“We are always trying to get clues as to who’s at high risk, especially in the African-American population, and looking at the age when people develop breast cancer,” he said.

Basile decided at an early age not to take the chance of developing breast cancer.

“Breast cancer is dominant on my mom’s side of the family,” said Basile, a merchandising assistant at Saks Fifth Avenue in Manhattan. She said the cancer affected every generation from her great-great-grandmother through her own mother.

“After seeing everything my mom went through, I didn’t want to wait for cancer to get me,” Basile said.

The family carries a BRCA1 gene mutation and Basile’s physician told her that she had an 80 percent lifetime risk of breast and/or ovarian cancer because of BRCA1.

Actress Angelina Jolie, a BRCA1 carrier, underwent a prophylactic mastectomy in 2013, the same procedure Basile had two years ago. As in Jolie’s case, Basile underwent a double mastectomy followed by the reconstruction of two new breasts.

Her mother, Melissa Basile, is pleased with her daughter’s choice.

“I’m so relieved that Taylor has made this decision,” Melissa Basile said. “We live in an amazing time and we have such awesome opportunities with the medical advances and how far science has come.”

That her daughter could take steps and avoid the disease “is incredible,” Basile said.


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